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Cell free fetal DNA in maternal plasma

Christopher K Ellison, Youting Sun, Grant Hogg, Jesse Fox, Helen Tao, Erin McCarthy, Bright Sagoe, Mostafa A Azab, Amin R Mazloom, John Tynan, Timothy Burcham, Sung K Kim, Dirk van den Boom, Mathias Ehrich, Taylor J Jensen
BACKGROUND: Current methods for noninvasive prenatal testing (NIPT) ascertain fetal aneuploidies using either direct counting measures of DNA fragments from specific genomic regions or relative measures of single nucleotide polymorphism frequencies. Alternatively, the ratios of paralogous sequence pairs were predicted to reflect fetal aneuploidy. We developed an NIPT assay that uses paralog sequences to enable noninvasive detection of fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA (cfDNA) from maternal plasma...
September 30, 2016: Clinical Chemistry
Xiongbin Kang, Jun Xia, Yicong Wang, Huixin Xu, Haojun Jiang, Weiwei Xie, Fang Chen, Peng Zeng, Xuchao Li, Yifan Xie, Hongtai Liu, Guodong Huang, Dayang Chen, Ping Liu, Hui Jiang, Xiuqing Zhang
BACKGROUND: With the speedy development of sequencing technologies, noninvasive prenatal testing (NIPT) has been widely applied in clinical practice for testing for fetal aneuploidy. The cell-free fetal DNA (cffDNA) concentration in maternal plasma is the most critical parameter for this technology because it affects the accuracy of NIPT-based sequencing for fetal trisomies 21, 18 and 13. Several approaches have been developed to calculate the cffDNA fraction of the total cell-free DNA in the maternal plasma...
2016: PloS One
S Drury, M Hill, L S Chitty
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions...
2016: Advances in Clinical Chemistry
Felix C K Wong, Kun Sun, Peiyong Jiang, Yvonne K Y Cheng, K C Allen Chan, Tak Y Leung, Rossa W K Chiu, Yuk Ming Dennis Lo
OBJECTIVES: The objectives of this study were to compare the concentrations, size profiles and major tissue contributors of cell-free DNA (cfDNA) in plasma and in serum. DESIGN AND METHODS: Thirteen pregnant women in the third trimester were recruited for this study. We collected EDTA-plasma and serum samples using various collection tubes. We determined their cfDNA concentrations and fetal cfDNA fractions using a zinc-finger X (ZFX)/zinc-finger Y (ZFY) droplet digital polymerase chain reaction (ZFX/ZFY ddPCR) assay...
September 9, 2016: Clinical Biochemistry
Karen Chinoca Ziza, Adolfo Wenjaw Liao, Marcia Dezan, Carla Luana Dinardo, Eduardo Jens, Rossana Pulcineli Vieira Francisco, Alfredo Mendrone Junior, Marcelo Zugaib, José Eduardo Levi
OBJECTIVE: To examine the accuracy of fetal RHD genotype and RHD pseudogene determination in a multiethnical population. METHODS: Prospective study involving D-negative pregnant women. Cell-free DNA was extracted from 1 ml of maternal plasma by an automated system (MagNA Pure Compact, Roche) and real-time PCR was performed in triplicate targeting the RHD gene exons 5 and 7. Inconclusive samples underwent RHD pseudogene testing by real-time PCR analysis employing novel primers and probe...
September 6, 2016: Journal of Clinical Laboratory Analysis
Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, Jessica M E van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
PURPOSE: Genome-wide sequencing of cell-free (cf)DNA of pregnant women aims to detect fetal chromosomal imbalances. Because the largest fraction of cfDNA consists of maternal rather than fetal DNA fragments, maternally derived copy-number variants (CNVs) are also measured. Despite their potential clinical relevance, current analyses do not interpret maternal CNVs. Here, we explore the accuracy and clinical value of maternal CNV analysis. METHODS: Noninvasive prenatal testing was performed by whole-genome shotgun sequencing on plasma samples...
September 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Semir Kose, Dilek Cımrın, Nuri Yıldırım, Ozge Aksel, Pembe Keskinoglu, Elcin Bora, Tufan Cankaya, Sabahattin Altunyurt
OBJECTIVE: To survey experience with the first-trimester combined test (FCT) for trisomy 21 (T21) in different risk score groups to determine the most useful clinical application of cell-free fetal DNA (cffDNA) screening. METHODS: In a retrospective study, the records of FCT results obtained at a center in Turkey between January 2009 and January 2014 were reviewed. The FCT results and rates of uptake of invasive diagnostic testing were compared among different risk score groups...
November 2016: International Journal of Gynaecology and Obstetrics
Rintu R Jacob, Renu Saxena, Ishwar C Verma
BACKGROUND: There have been conflicting observations reported in the literature regarding the effects of formaldehyde in the recovery of cell free fetal DNA (CFF DNA) from maternal plasma. The aim of the present study was to assess the effect of formaldehyde treatment on circulating cell free DNA. METHODS: We conducted this study using blood specimens collected from 11 pregnant women, each of whom was carrying a male fetus. DYS14 and HBB real time assays were performed to quantify fetal and total circulating cell free DNA from formaldehyde treated and untreated maternal plasma specimens, respectively...
November 2016: Laboratory Medicine
Paul A Cohen, Nicola Flowers, Stephen Tong, Natalie Hannan, Mark D Pertile, Lisa Hui
BACKGROUND: Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. Pre-symptomatic maternal malignancies have been incidentally detected during NIPT based on abnormal genomic profiles. This low coverage sequencing approach could have potential for ovarian cancer screening in the non-pregnant population. Our objective was to investigate whether plasma DNA sequencing with a clinical whole genome NIPT platform can detect early- and late-stage high-grade serous ovarian carcinomas (HGSOC)...
August 24, 2016: BMC Medicine
Ling Ma, Yan-Chun Liu, Ruo-Yang Zhang, Xiao-Yu Zhou, Jing-Ming Xun
OBJECTIVE: To investigate the feasibility of noninvasive fetal ABO genotyping based on RASSF1A gene with circulating cell-free fetal DNA(cffDNA) from maternal plasma. METHODS: DNA was extracted from the O group pregnant plasma, and the presence of cffDNA was confirmed by fetal DNA maker SRY and RASSF1A. B and non-O were detected by real-time PCR, and the genotyping results were evaluated by using the serologic tests for ABO phenotyping. RESULTS: Among the samples of 20 cases, the SRY was found in 11 cases by detecteion, the detection results were consistent with sex of infants after delivery; the RASSF1A was amplified all in samples of other 9 cases after BstU1 cleavage, which confirmed existance of cffDNA...
August 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
Lean Beulen, Brigitte H W Faas, Ilse Feenstra, John M G van Vugt, Mireille N Bekker
OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high risk for fetal chromosomal abnormalities based on ultrasonographic examination, where NIPT was performed as first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome as well as partial autosomal aneuploidies, as currently in the Dutch laboratories, sex chromosomes are not analysed...
August 12, 2016: Ultrasound in Obstetrics & Gynecology
E De Franco, R Caswell, J A L Houghton, V Iotova, A T Hattersley, S Ellard
AIMS: An early genetic diagnosis of neonatal diabetes guides clinical management and results in improved treatment in ~ 40% of patients. In the offspring of individuals with neonatal diabetes, a prenatal diagnosis allows accurate estimation of the risk of developing diabetes and, eventually, the most appropriate treatment for the baby. In this study, we performed non-invasive prenatal genetic testing for a fetus at risk of inheriting a paternal KCNJ11 p.R201C mutation causing permanent neonatal diabetes...
June 29, 2016: Diabetic Medicine: a Journal of the British Diabetic Association
Beenish Rahat, Shilpa Thakur, Rashmi Bagga, Jyotdeep Kaur
INTRODUCTION: Development of normal placenta requires regulated apoptosis of trophoblasts. However, uncontrolled apoptosis has been seen in the pregnancy related complications like hydatidiform mole and pre-eclampsia. STAT5A is a transcription factor with well-known anti-apoptotic role. Thus, we sought to study the role of STAT5A and its epigenetic regulation in placental development and pathologies and its use as fetal DNA epigenetic marker. METHODS: The present study was conducted on pregnant women who were enrolled in five groups, based on the three trimesters in normal pregnancy and two pregnancy related disorder groups: pre-eclampsia and hydatidiform mole...
August 2016: Placenta
Ting Wang, Quanze He, Haibo Li, Jie Ding, Ping Wen, Qin Zhang, Jingjing Xiang, Qiong Li, Liming Xuan, Lingyin Kong, Yan Mao, Yijun Zhu, Jingjing Shen, Bo Liang, Hong Li
Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate (FNR) and false positive rate (FPR) in fetal sex prediction as well as in SCAs detection...
2016: PloS One
Robert M Silver, Leslie Myatt, John C Hauth, Kenneth J Leveno, Alan M Peaceman, Susan M Ramin, Philip Samuels, George Saade, Yoram Sorokin, Rebecca G Clifton, Uma M Reddy
Objective The objective of this study was to assess the relationship between first trimester cell-free total and fetal DNA in maternal plasma and the subsequent development of preeclampsia. Study Design Nested case-control study of patients enrolled in the Combined Antioxidant and Preeclampsia Prediction Studies prediction study of 175 women who did and 175 women who did not develop preeclampsia. The predictive values of cell-free total and fetal DNA and the subsequent development of preeclampsia were measured using receiver operating characteristic curves...
July 11, 2016: American Journal of Perinatology
Alexandre Vivanti, Alexandra Benachi, François-Xavier Huchet, Yves Ville, Henri Cohen, Jean-Marc Costa
BACKGROUND: Rhesus D genotyping using cell-free fetal DNA is currently used throughout the world. While this technique has spread rapidly, its optimal use is still a matter of debate. This screening test has mainly been introduced for managing RhD-negative pregnant women during the third trimester of pregnancy, thereby avoiding systematic anti-D prophylaxis, yet such a strategy has proven cost-ineffective. Publications reporting on fetal RHD genotyping using cell-free DNA in maternal plasma, specifically during the first trimester of pregnancy, are scarce in the scientific literature...
July 5, 2016: American Journal of Obstetrics and Gynecology
Sigrun Ingvarsdottir, Vigdis Stefansdottir, Helga Gottfredsdottir
INTRODUCTION: Prenatal screening in early pregnancy is offered to all women in Iceland. In the case of an increased risk, invasive diagnostic test with 1% risk of fetal loss is offered. Recent developments include an exploration of a cell free fetal DNA in maternal plasma. The aim of this study was to explore factors that are of importance to pregnant women and professionals in fetal diagnosis. MATERIAL AND METHODS: A questionnaire incorporating a discrete choice experimental design was used...
June 2016: Læknablađiđ
Florentine F Thurik, Godelieve C M L Page-Christiaens, Aicha Ait Soussan, Peter C Ligthart, Goedele M A F Cheroutre, Bernadette Bossers, Barbera Veldhuisen, C Ellen van der Schoot, Masja de Haas
BACKGROUND: Fetal RHD genotyping allows targeted diagnostic testing, fetal surveillance, and eventually intrauterine treatment to D-alloimmunized pregnant women who carry an RHD+ fetus. However, false-positive and false-negative results of noninvasive prenatal fetal RHD genotyping have been described due to a variety of causes. In this case report we present two cases where noninvasive fetal RHD typing was complicated by a previous bone marrow transplantation (BMT). CASE REPORT: We describe two women with a history of allogeneic BMT in early childhood...
August 2016: Transfusion
Lucie Orhant, Sophie Rondeau, Aurélie Vasson, Olivia Anselem, François Goffinet, Laïla Allach El Khattabi, France Leturcq, Dominique Vidaud, Thierry Bienvenu, Vassilis Tsatsaris, Juliette Nectoux
The discovery of free fetal DNA in the maternal circulation has inaugurated the era of non-invasive prenatal diagnosis. The latter has the advantage of avoiding the use of conventional obstetric procedures, such as chorionic villus sampling or aspiration of amniotic fluid, thus limiting the risks of miscarriage they induce. However, as free fetal DNA accounts for about 10% of cell-free DNA in maternal plasma, the presence of ambient maternal DNA can make it difficult to detect fetal alleles of paternal origin...
June 1, 2016: Annales de Biologie Clinique
Francesca Gerundino, Claudia Giachini, Elisa Contini, Matteo Benelli, Giuseppina Marseglia, Costanza Giuliani, Francesca Marin, Genni Nannetti, Ermanna Lisi, Fiammetta Sbernini, Enrico Periti, Adalgisa Cordisco, Enrico Colosi, Valentina D'ambrosio, Marta Mazzi, Maya Rossi, Lucia Staderini, Barbara Minuti, Elisabetta Pelo, Rita Cicatiello, Giuseppe Maria Maruotti, Gabriella Sglavo, Anna Conti, Sabrina Frusconi, Chiara Pescucci, Francesca Torricelli
OBJECTIVE: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS). METHODS: MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid cases (n = 69); digital PCR for fetal fraction (FF) assessment was performed on 178/381 samples. Cases with <10 × 10(6) reads (n = 54) were excluded for downstream data analysis...
May 26, 2016: Journal of Maternal-fetal & Neonatal Medicine
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